Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr1:223320642-223321135	U2OS	brain:	n/a	n/a

Variant related genes	Relation type
TLR5	TF binding region

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12122451	0.94[ASN][1000 genomes]
rs1341986	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1640827	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17609948	0.97[ASN][1000 genomes]
rs1773750	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2353475	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2883182	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34849527	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35442320	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35511158	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4140967	0.94[ASN][1000 genomes]
rs5744105	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61837564	0.97[ASN][1000 genomes]
rs61837576	0.94[ASN][1000 genomes]
rs723960	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72743863	0.97[ASN][1000 genomes]
rs72743873	0.91[ASN][1000 genomes]
rs851191	0.89[ASN][1000 genomes]
rs9442047	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9442048	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1014896	chr1:223070446-223327185	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223317600-223326800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:223317800-223321400	Weak transcription	Gastric	stomach
3	chr1:223318000-223321400	Weak transcription	Thymus	Thymus
4	chr1:223318400-223322600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr1:223318600-223321400	Weak transcription	Fetal Muscle Leg	muscle

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